Li XY - Search Results

1

Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation.

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Song JQ, Shi XY, Zhang WN, Zhao M, Hu LY, Yang YL, Zou LP. Ma YY, et al. Among authors: li xy. Mitochondrial DNA. 2013 Jun;24(3):297-302. doi: 10.3109/19401736.2012.760071. Epub 2013 Jan 29. Mitochondrial DNA. 2013. PMID: 23360351

2

[Intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency in a Chinese boy].

Wu TF, Liu YP, Wang Q, Li XY, Ma YY, Song JQ, Yang YL. Wu TF, et al. Among authors: li xy. Zhongguo Dang Dai Er Ke Za Zhi. 2012 Apr;14(4):241-6. Zhongguo Dang Dai Er Ke Za Zhi. 2012. PMID: 22537948 Free article. Chinese.

3

[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].

Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL. Liu YP, et al. Among authors: li xy. Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):410-4. Zhonghua Er Ke Za Zhi. 2012. PMID: 22931934 Chinese.

4

Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL. Ma YY, et al. Among authors: li xy. Mitochondrial DNA. 2013 Feb;24(1):67-73. doi: 10.3109/19401736.2012.717932. Epub 2012 Sep 5. Mitochondrial DNA. 2013. PMID: 22947169

5

[A boy with Fabry disease with the onset at the age of four].

Liu YP, Huang Y, Wang Q, Wu TF, Ma YY, Li XY, Song JQ, Yang YL. Liu YP, et al. Among authors: li xy. Beijing Da Xue Xue Bao Yi Xue Ban. 2013 Apr 18;45(2):307-11. Beijing Da Xue Xue Bao Yi Xue Ban. 2013. PMID: 23591357 Free article. Chinese.

6

Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.

Wu TF, Liu YP, Li XY, Wang Q, Song JQ, Yang YL. Wu TF, et al. Among authors: li xy. Brain Dev. 2014 Mar;36(3):264-7. doi: 10.1016/j.braindev.2013.03.005. Epub 2013 Apr 20. Brain Dev. 2014. PMID: 23611581

7

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Ding Y, Song JQ, Shi XY, Zhang WN, Zhao M, Hu LY, Ju J, Wang ZL, Yang YL, Zou LP. Ma YY, et al. Among authors: li xy. Brain Dev. 2014 May;36(5):394-8. doi: 10.1016/j.braindev.2013.06.003. Epub 2013 Jul 9. Brain Dev. 2014. PMID: 23849264

8

Five novel mutations in ARG1 gene in Chinese patients of argininemia.

Wu TF, Liu YP, Li XY, Wang Q, Ding Y, Ma YY, Song JQ, Yang YL. Wu TF, et al. Among authors: li xy. Pediatr Neurol. 2013 Aug;49(2):119-23. doi: 10.1016/j.pediatrneurol.2013.04.026. Pediatr Neurol. 2013. PMID: 23859858

9

[Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency].

Li XY, Yang YL. Li XY, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2013 Jul;15(7):596-600. Zhongguo Dang Dai Er Ke Za Zhi. 2013. PMID: 23866288 Free article. Review. Chinese.

10

Genetic and biochemical findings in Chinese children with Leigh syndrome.

Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Li XY, Shi XY, Zhang WN, Zhao M, Hu LY, Yang YL, Zou LP. Ma YY, et al. Among authors: li xy. J Clin Neurosci. 2013 Nov;20(11):1591-4. doi: 10.1016/j.jocn.2013.03.034. Epub 2013 Aug 13. J Clin Neurosci. 2013. PMID: 23953430

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